Glycine encephalopathy: genes and variants
Glycine encephalopathy is linked to 1 analyzed protein (PCDH19). 5 DNA variants are known to cause it; 1 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Glycine encephalopathy
PCDH19: Protocadherin-19
It mediates calcium-dependent cell adhesion in developing neural circuits, where mixed populations of variant and normal cells can disrupt network organization. Heterozygous loss-of-function variants classically cause clustering epilepsy in females with variable developmental and behavioral impairment.
5 disease-causing and 1 uncertain variants in PCDH19 are linked to Glycine encephalopathy.
Where Glycine encephalopathy variants cluster
- PCDH19 Extracellular (positions 22–678): 5 of 5 disease-causing changes, 1.8× more than its size predicts.
Known disease-causing variants in Glycine encephalopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PCDH19 D558H | 558 | Cadherin 5 | Disease-causing |
| PCDH19 Q201P | 201 | Cadherin 2 | Disease-causing |
| PCDH19 L260R | 260 | Cadherin 3 | Disease-causing |
| PCDH19 L640R | 640 | Cadherin 6 | Disease-causing |
| PCDH19 A654P | 654 | Cadherin 6 | Disease-causing |
Diseases related to Glycine encephalopathy
- Epilepsy, also linked to PCDH19
Frequently asked questions
Which genes are linked to Glycine encephalopathy?
In CATVariant, Glycine encephalopathy is linked to 1 analyzed protein: PCDH19 (Protocadherin-19).
How many genetic variants are linked to Glycine encephalopathy?
6 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 1 are of uncertain significance or have conflicting reports.
Which uncertain variants in Glycine encephalopathy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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